-Edward Alfred Cockayne was a physician that concentrated on hereditary diseases of children. 1880-1956
What is Crockayne Syndrome?
Cockayne syndrome is a rare inherited disorder. People with this disorder are sensitive to sunlight, have short stature, and have the appearance of premature aging. In the classical form of Cockayne syndrome also known as Type I, the symptoms become clear at the age of 1. Type II becomes clear even before that. This type can be seen at birth. Unlike other DNA related diseases, Cockayne syndrome has no direct link to cancer.
Characteristics
Crockayne Syndrome
-short height
-fast aging
-weight and height gain at a strange rate
-small head size
-The development of the nervous system
-abnormal sensitivity to sunlight called photosensitivity
-hearing loss -eye abnormalities
-severe tooth decay
-problems with internal organs
How is it inherited?
Cockayne Syndrome is a recessive disease. Both of the parents must be carriers for a baby to have a chance to inherit this disease.
Pedigree chart of a family with parent carriers
The CSA gene on the number 5 chromosome of a person with Cockayne Syndrome
Chromosome problems with Cockayne Syndrome
There are two different genes that need to be defective to cause Cockayne syndrome. The genes are CSA and CSB. The CSA gene is found on chromosome 5. Both genes code for proteins that interacts with components of the transcriptional machinery and with DNA repair proteins.
Frequency and problems with Cockayne Syndrome
The Frequency of this disorder is about 1 in 100,000. Patients with Cockayne syndrome type 1 have progressive, unremitting, neurologic breakdown. Most people with this disorder will die before they reach 20 years old. People with type 2 will die around the age of 6. Sex and race have nothing to do with inheriting this disease.
-Edward Alfred Cockayne was a physician that concentrated on hereditary diseases of children.
1880-1956
What is Crockayne Syndrome?
Cockayne syndrome is a rare inherited disorder. People with this disorder are sensitive to sunlight, have short stature, and have the appearance of premature aging. In the classical form of Cockayne syndrome also known as Type I, the symptoms become clear at the age of 1. Type II becomes clear even before that. This type can be seen at birth. Unlike other DNA related diseases, Cockayne syndrome has no direct link to cancer.
Characteristics
-short height
-fast aging
-weight and height gain at a strange rate
-small head size
-The development of the nervous system
-abnormal sensitivity to sunlight called photosensitivity
-hearing loss -eye abnormalities
-severe tooth decay
-problems with internal organs
How is it inherited?
Cockayne Syndrome is a recessive disease. Both of the parents must be carriers for a baby to have a chance to inherit this disease.
Chromosome problems with Cockayne Syndrome
There are two different genes that need to be defective to cause Cockayne syndrome. The genes are CSA and CSB. The CSA gene is found on chromosome 5. Both genes code for proteins that interacts with components of the transcriptional machinery and with DNA repair proteins.
Frequency and problems with Cockayne Syndrome
The Frequency of this disorder is about 1 in 100,000. Patients with Cockayne syndrome type 1 have progressive, unremitting, neurologic breakdown. Most people with this disorder will die before they reach 20 years old. People with type 2 will die around the age of 6. Sex and race have nothing to do with inheriting this disease.
Questions
http://chromosome-5.tripod.com/d2.html
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=cockaynesyndrome
http://ghr.nlm.nih.gov/condition=cockaynesyndrome